NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) AND multiple conditions

delete

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 20, 2020
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001659723.1

Allele description

NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg)

Other names:

p.M1775R:ATG>AGG

HGVS:

NC_000017.11:g.43051071A>C
NG_005905.2:g.166913T>G
NM_007294.3:c.5324T>G
NM_007294.4:c.5324T>GMANE SELECT
NM_007297.4:c.5183T>G
NM_007298.3:c.2012T>G
NM_007299.4:c.2012T>G
NM_007300.4:c.5387T>G
NP_009225.1:p.Met1775Arg
NP_009225.1:p.Met1775Arg
NP_009228.2:p.Met1728Arg
NP_009229.2:p.Met671Arg
NP_009230.2:p.Met671Arg
NP_009231.2:p.Met1796Arg
LRG_292t1:c.5324T>G
LRG_292:g.166913T>G
LRG_292p1:p.Met1775Arg
NC_000017.10:g.41203088A>C
NM_007294.4:c.5324T>G
NR_027676.2:n.5501T>G
P38398:p.Met1775Arg
U14680.1:n.5443T>G
p.M1775R

Nucleotide change:

5443T>G

Protein change:

M1728R; MET1775ARG

Links:

BRCA1-HCI: BRCA1_00105; UniProtKB: P38398#VAR_007799; OMIM: 113705.0035; dbSNP: rs41293463

NCBI 1000 Genomes Browser:

rs41293463

Molecular consequence:

NM_007294.3:c.5324T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.5324T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.5183T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007298.3:c.2012T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007299.4:c.2012T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.5387T>G - missense variant - [Sequence Ontology: SO:0001583]
NR_027676.2:n.5501T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Condition(s)

Name:: Breast-ovarian cancer, familial 2 (BROVCA2)
Synonyms:: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; Breast cancer, familial 2
Identifiers:: MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

Name:: Breast-ovarian cancer, familial 1 (BROVCA1)
Synonyms:: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; OVARIAN CANCER, SUSCEPTIBILITY TO; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

Name:: Hereditary breast and ovarian cancer syndrome (HBOC)
Synonyms:: Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC)
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145; OMIM: PS604370

Recent activity

Clear Turn Off Turn On

206R [Invertebrate iridescent virus 6]
206R [Invertebrate iridescent virus 6]
gi|15078918|ref|NP_149669.1|

Protein
hypothetical protein [Homo sapiens]
hypothetical protein [Homo sapiens]
gi|31874628|emb|CAD98053.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001878764	Research and Development, ARUP Laboratories	criteria provided, single submitter (Plon et al Hum Mutat 2008 29:1282-91 Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results)	Pathogenic (Jan 20, 2020)	germline	curation	PubMed (3) [See all records that cite these PMIDs] 7545954, 18951461, 18951446 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001878764

Research and Development, ARUP Laboratories

criteria provided, single submitter

(Plon et al Hum Mutat 2008 29:1282-91 Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results)

Pathogenic
(Jan 20, 2020)

germline

curation

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.

Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W, et al.

Science. 1994 Oct 7;266(5182):66-71.

PubMed [citation]

PMID:: 7545954

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

Tavtigian SV, Byrnes GB, Goldgar DE, Thomas A.

Hum Mutat. 2008 Nov;29(11):1342-54. doi: 10.1002/humu.20896.

PubMed [citation]

PMID:: 18951461
PMCID:: PMC3938023

See all PubMed Citations (3)

Details of each submission

From Research and Development, ARUP Laboratories, SCV001878764.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 11, 2021

ClinVar

Relating variation to medicine